Keywords
Errores Innatos de la Inmunidad
Inmunodeficiencias
How to Cite
Plaudit
Abstract
Case Report
Background:
Wiskott-Aldrich syndrome (WAS) is an inborn error of immunity characterized by thrombocytopenia, small platelets, severe eczema, recurrent infections, and susceptibility to autoimmune diseases and malignancies. Diagnosis can be challenging, especially when platelets are of normal size.
Case Report:
A 3-year-old male patient was referred to the Hospital Universitário da Santa Casa de São Paulo, Brazil, for acute otitis media, which progressed to sepsis due to Haemophilus influenzae. At one month of age, he was diagnosed with autoimmune thrombocytopenia, and at two years, he underwent splenectomy. During follow-up, he required three hospitalizations: one for Streptococcus pneumoniae infection leading to sepsis, another for eczema exacerbation with Staphylococcus epidermidis isolation, and the last for fever of unknown origin. Laboratory tests after splenectomy showed platelet counts within the reference range, with normal platelet size.
At four years old, further immunological tests revealed an elevated IgE level (3128 kU/L), normal IgA, IgG, and anti-polysaccharide antibodies, decreased IgM, CD19, naïve TCD4, and naïve B cells, increased TCD8, and normal NK cells. These findings led to the suspicion of WAS. Genetic testing confirmed the c.295C>T mutation in the WAS gene.
Conclusions:
This case describes a novel mutation in the WAS gene, presenting with a mild Wiskott-Aldrich syndrome phenotype, characterized by thrombocytopenia, normal-sized platelets, and X-linked inheritance. Early diagnosis and appropriate treatment are crucial to improving the quality of life for these patients.
References
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